ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.691_694del (p.Phe231fs)

dbSNP: rs1784787989
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001212929 SCV001384540 pathogenic Hereditary nonpolyposis colorectal neoplasms 2019-08-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). This variant has not been reported in the literature in individuals with PMS2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Phe231Glyfs*26) in the PMS2 gene. It is expected to result in an absent or disrupted protein product.
All of Us Research Program, National Institutes of Health RCV004010691 SCV004831717 pathogenic Lynch syndrome 2023-11-06 criteria provided, single submitter clinical testing The c.691_694del (p.Phe231Glyfs*26 ) variant in the PMS2 gene is located on the exon 6 and is predicted to cause shift of reading frame that introduces a premature translation termination codon (p.Phe231Glyfs*26), resulting in an absent or disrupted protein product. Loss-of-function variants in PMS2 are known to be pathogenic and frameshift/truncating variants located upstream and downstream to this position have been reported in individuals with Lynch syndrome (PMID: 28514183, 25512458, 35223509). The variant is reported in ClinVar (ID: 942855). The variant is absent in the general population database (gnomAD). Therefore, the c.691_694del (p.Phe231Glyfs*26 ) variant of PMS2 has been classified as pathogenic.

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